A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305344



Internal ID15152292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103230919..103230920hg38UCSC Ensembl
Innerchr1:103230874..103230965hg38UCSC Ensembl
Outerchr1:103230873..103230966hg38UCSC Ensembl
chr1:103696475..103696476hg19UCSC Ensembl
Innerchr1:103696430..103696521hg19UCSC Ensembl
Outerchr1:103696429..103696522hg19UCSC Ensembl
chr1:103469063..103469064hg18UCSC Ensembl
Innerchr1:103469109..103469018hg18UCSC Ensembl
Outerchr1:103469017..103469110hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7760193, essv7746118, essv7758456, essv7761820, essv7758335, essv7763350, essv7749825, essv7750399, essv7742351
SamplesNA18519, NA19238, NA18907, NA19257, NA18909, NA19240, NA18501, NA19093, NA18522
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305344
Frequency
Sample Size185
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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